Sendromik Kraniosinostozlar
Özet
Referanslar
Virchow R. Uber den Cretinismus, samentlich in Franken, und uber pathologische schadelformen. Verh Phys Med Ges Wurz. 1851;2:230–70.
Zins JE, Gordon CR. Handbook of craniomaxillofacial surgery. World Scientific; 2014.
Wilkie AOM. Craniosynostosis: genes and mechanisms. Hum Mol Genet. 1997;6(10):1647–56.
Lajeunie E, Heuertz S, El Ghouzzi V, Martinovic J, Renier D, Le Merrer M, et al. Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. European journal of human genetics. 2006;14(3):289–98.
Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. Genetics of craniosynostosis. In: Seminars in pediatric neurology. Elsevier; 2007. p. 150–61.
Cohen Jr MM. Craniosynostoses: phenotypic/molecular correlations. Am J Med Genet. 1995;56(3).
Renier D, Sainte-Rose C, Marchac D, Hirsch JF. Intracranial pressure in craniostenosis. J Neurosurg. 1982;57(3):370–7.
Boyadjiev SA, Consortium IC. Genetic analysis of non‐syndromic craniosynostosis. Orthod Craniofac Res. 2007;10(3):129–37.
NH R. FGFR-related craniosynostosis syndromes. GeneReviews^. 2011;
Crouzon O. Dysostose cranio-facial herediaire. Bull Soc Med Hos Paris. 1912;33:545–55.
Derderian C, Seaward J. Syndromic craniosynostosis. In: Seminars in plastic surgery. Thieme Medical Publishers; 2012. p. 64–75.
Moloney DM, Slaney SR, Oldridge M, Wall SA, Sahlin P, Stenman G, et al. Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet. 1996;13(1):48–53.
Fearon JA, Podner C. Apert syndrome: evaluation of a treatment algorithm. Plast Reconstr Surg. 2013;131(1):132–42.
Sisco M, Bauer BS. Craniofacial syndromes and sequences. Principle and Practice of Pediatric Plastic Surgery St Louis, MO: QMP. 2008;389–437.
Cohen Jr MM. Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet. 1993;45(3):300–7.
Fearon JA, Rhodes J. Pfeiffer syndrome: a treatment evaluation. Plast Reconstr Surg. 2009;123(5):1560–9.
Chotzen F. Eine eigenartige familiare Entwicklungsstorung (Akrocephalosyndaktylie, Dysostosis craniofacialis und Hypertelorismus). Monastschr Kinderheilkd. 1932;55:97.
Saethre H. Ein Beitrag zum Turmschädelproblem,(Pathogenese, Erblichkeit und Symptomatologie). Dtsch Z Nervenheilkd. 1931;117(1):533–55.
Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, Luna RIO De, et al. Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome. Nat Genet. 1997;15(1):36–41.
El Ghouzzi V, Lajeunie E, Le Merrer M, Cormier-Daire V, Renier D, Munnich A, et al. Mutations within or upstream of the basic helix–loop–helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. European Journal of Human Genetics. 1999;7(1):27–33.
Cai J, Goodman BK, Patel AS, Mulliken JB, Van Maldergem L, Hoganson GE, et al. Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. Hum Genet. 2003;114(1):68–76.
Brueton LA, Van Herwerden L, Chotai KA, Winter RM. The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. J Med Genet. 1992;29(10):681–5.
Hersh DS, Hughes CD. Syndromic craniosynostosis: unique management considerations. Neurosurgery Clinics. 2022;33(1):105–12.
Taylor JA, Bartlett SP. What’s new in syndromic craniosynostosis surgery? Plast Reconstr Surg. 2017;140(1):82e–93e.